ClinVar for Gene (Select 151126) - ClinVar

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Links from Gene

Items: 61

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3335625	NM_152520.6(ZNF385B):c.918A>T (p.Lys306Asn)	ZNF385B (K306N +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3335624	NM_152520.6(ZNF385B):c.1423C>T (p.Arg475Cys)	LOC122861258, ZNF385B (R384C +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3335623	NM_152520.6(ZNF385B):c.254C>T (p.Pro85Leu)	ZNF385B (P4S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3335622	NM_152520.6(ZNF385B):c.409T>A (p.Ser137Thr)	ZNF385B (S183T +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3195466	NM_152520.6(ZNF385B):c.1009A>G (p.Ile337Val)	ZNF385B (I337V +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3195465	NM_152520.6(ZNF385B):c.884A>G (p.Lys295Arg)	ZNF385B (K148R +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3195464	NM_152520.6(ZNF385B):c.829C>G (p.Pro277Ala)	ZNF385B (P130A +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3195463	NM_152520.6(ZNF385B):c.790T>G (p.Ser264Ala)	ZNF385B (S173A +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3195462	NM_152520.6(ZNF385B):c.749G>A (p.Ser250Asn)	ZNF385B (S167N +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3195461	NM_152520.6(ZNF385B):c.1426G>A (p.Ala476Thr)	LOC122861258, ZNF385B (A347T +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3195460	NM_152520.6(ZNF385B):c.1229C>G (p.Pro410Arg)	ZNF385B (P410R +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2609136	NM_152520.6(ZNF385B):c.1267A>G (p.Met423Val)	LOC122861258, ZNF385B (M294V +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2605825	NM_152520.6(ZNF385B):c.301A>G (p.Ser101Gly)	ZNF385B (S101G +3 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2603149	NM_152520.6(ZNF385B):c.668C>T (p.Pro223Leu)	ZNF385B (P132L +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2598164	NM_152520.6(ZNF385B):c.256C>T (p.Pro86Ser)	ZNF385B (P86S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2590445	NM_152520.6(ZNF385B):c.791C>G (p.Ser264Cys)	ZNF385B (S117C +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2546639	NM_152520.6(ZNF385B):c.599T>C (p.Val200Ala)	ZNF385B (V83A +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2537678	NM_152520.6(ZNF385B):c.1375G>T (p.Ala459Ser)	LOC122861258, ZNF385B (A342S +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2533512	NM_152520.6(ZNF385B):c.1177G>A (p.Gly393Arg)	ZNF385B (G276R +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2533312	NM_152520.6(ZNF385B):c.1064G>C (p.Gly355Ala)	ZNF385B (G238A +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2519490	NM_152520.6(ZNF385B):c.539G>A (p.Arg180His)	ZNF385B (R180H +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2386015	NM_152520.6(ZNF385B):c.68G>A (p.Arg23Gln)	ZNF385B (R23Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2320278	NM_152520.6(ZNF385B):c.820G>A (p.Ala274Thr)	ZNF385B (A145T +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2242316	NM_152520.6(ZNF385B):c.1181A>T (p.Lys394Ile)	ZNF385B (K303I +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1808725	GRCh37/hg19 2q31.1-31.3(chr2:175143352-180999636)x1	AGPS, ATF2 +38 more	Copy number loss	not provided	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1526933	GRCh37/hg19 2q31.1-35(chr2:169829974-215521436)	AGPS, ANKAR +217 more	Copy number gain	not specified	GPathogenic
Select item 1047877	GRCh37/hg19 2q31.1-31.3(chr2:171999572-182774361)	PJVK, RBM45 +60 more	Copy number loss	3-4 finger osseus syndactyly +1 more	GPathogenic
Select item 983184	GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3	AAMP, ABCA12 +384 more	Copy number gain	See cases	GPathogenic
Select item 981210	GRCh37/hg19 2q24.2-31.3(chr2:163078055-182119617)x1	ABCB11, AGPS +97 more	Copy number loss	2q24 microdeletion syndrome	GPathogenic
Select item 979389	GRCh37/hg19 2q31.2-32.1(chr2:180266166-183403506)x3	UBE2E3, CERKL +8 more	Copy number gain	not provided	GUncertain significance
Select item 958482	NM_152520.6(ZNF385B):c.601A>T (p.Lys201Ter)	ZNF385B (K201* +7 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 814351	GRCh37/hg19 2q31.2-31.3(chr2:180557719-180850879)x3	CWC22, MIR1258 +1 more	Copy number gain	not provided	GUncertain significance
Select item 814349	GRCh37/hg19 2q31.2(chr2:179696540-180316604)x3	CCDC141, ZNF385B +1 more	Copy number gain	not provided	GUncertain significance
Select item 814347	GRCh37/hg19 2q31.1-32.3(chr2:174690039-195521582)x1	AGPS, ANKAR +86 more	Copy number loss	not provided	GPathogenic
Select item 814337	GRCh37/hg19 2q24.2-34(chr2:163233162-211927188)x3	CASP8, CAVIN2 +233 more	Copy number gain	not provided	GPathogenic
Select item 780364	NM_152520.6(ZNF385B):c.1141-4T>C	ZNF385B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 775793	NM_152520.6(ZNF385B):c.1428C>T (p.Ala476=)	LOC122861258, ZNF385B	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 774598	NM_152520.6(ZNF385B):c.207C>T (p.Asn69=)	ZNF385B	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 738036	NM_152520.6(ZNF385B):c.231G>A (p.Val77=)	ZNF385B	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 732359	NM_152520.6(ZNF385B):c.96C>T (p.Asn32=)	ZNF385B	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 720664	NM_152520.6(ZNF385B):c.293G>T (p.Ser98Ile)	ZNF385B (S98I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 687825	GRCh37/hg19 2q31.2-31.3(chr2:180161580-181127178)x1	CWC22, MIR1258 +1 more	Copy number loss	not provided	GUncertain significance
Select item 687517	GRCh37/hg19 2q24.3-32.3(chr2:167329586-192756373)x1	ABCB11, AGPS +125 more	Copy number loss	not provided	GPathogenic
Select item 685829	GRCh37/hg19 2q31.1-32.1(chr2:173538954-186401606)x1	AGPS, ATF2 +56 more	Copy number loss	not provided	GPathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 253638	GRCh37/hg19 2q24.1-31.3(chr2:156489430-182921298)x3	ABCB11, ACVR1 +129 more	Copy number gain	See cases	GPathogenic
Select item 252975	GRCh37/hg19 2q31.1-32.3(chr2:177315153-196375520)x1	AGPS, ANKAR +62 more	Copy number loss	See cases	GPathogenic
Select item 155530	GRCh38/hg38 2q31.1-31.3(chr2:174236451-181188846)x1	AGPS, ATF2 +224 more	Copy number loss	See cases	GPathogenic
Select item 155417	GRCh38/hg38 2q31.1-32.3(chr2:176086763-193201970)x1	AGPS, ANKAR +377 more	Copy number loss	See cases	GPathogenic
Select item 153288	GRCh38/hg38 2q31.2-32.3(chr2:177827730-195125329)x1	ANKAR, ASDURF +312 more	Copy number loss	See cases	GPathogenic
Select item 150677	GRCh38/hg38 2q31.3(chr2:179732688-180780475)x3	CWC22, EPCART +8 more	Copy number gain	See cases	GLikely benign
Select item 147705	GRCh38/hg38 2q31.1-32.2(chr2:174634502-189000964)x1	AGPS, ATF2 +307 more	Copy number loss	See cases	GPathogenic
Select item 147692	GRCh38/hg38 2q31.1-32.2(chr2:171429233-189179568)x1	AGPS, ATF2 +417 more	Copy number loss	See cases	GPathogenic
Select item 60253	GRCh38/hg38 2q31.1-32.1(chr2:170407688-186189894)x1	AGPS, ATF2 +411 more	Copy number loss	See cases	GPathogenic
Select item 60248	GRCh38/hg38 2q24.3-32.1(chr2:163965382-182195062)x1	ABCB11, AGPS +488 more	Copy number loss	See cases	GPathogenic
Select item 58772	GRCh38/hg38 2q31.2-32.1(chr2:178880151-185352829)x1	CCDC141, CERKL +104 more	Copy number loss	See cases	GPathogenic
Select item 58771	GRCh38/hg38 2q31.2-33.1(chr2:177874070-198525492)x1	ANKAR, ANKRD44 +430 more	Copy number loss	See cases	GPathogenic
Select item 58770	GRCh38/hg38 2q31.1-33.1(chr2:176304445-202039790)x1	LOC126806416, LOC126806417 +591 more	Copy number loss	See cases	GPathogenic
Select item 57301	GRCh38/hg38 2q31.1-33.2(chr2:174898848-203941548)x1	LOC129935164, LOC129935165 +697 more	Copy number loss	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 61